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Week 11 Flashcards

1
Q

Puberty

A

Describes the physiological, morphological and behavioural changes as the gonads switch from infantile to adult forms

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2
Q

Physical changes- growth

A

Adolescent growth spurt: rapid increase in the individuals height (and weight) as a consequence of the action of gonadal sex steroids
Height gain during puberty (average): boys-28cm, girls 25cm
Time minimum growth velocity: girls 9-10. Boys 9-12
Peak height velocity girls: 12 boys:14.
Time of decreasing growth velocity (epiphyseal fusion)

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3
Q

Physical changes: secondary sexual characteristics

A

Girls:
-breast development: controlled by ovarian oestrogens
-pubic and axillary hair: controlled by ovarian and adrenal androgens
Boys:
-development of penis, scrotum and pubic hair growth
-enlargement of larynx and laryngeal muscles (voice deepening)
-increase body muscle mass: controlled by testicular (and adrenal) androgens

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4
Q

Tanner stages- boys

A

Stage 1:
-Prepubertal: no pubic hair
-Testicular length <2.5cm
-Testicular volume <3.0ml
Stage 2:
-sparse growth of slightly curly pubic hair, mainly based on of penis
-testes >3ml (>2.5cm in longest diameter)
-scrotum thinning and reddening
Stage 3:
-thicker curlier hair spread to mons pubis
-growth penis in width and length; further growth of testis
Stage 4:
-adult type hair, not yet spread to medial surface thighs
-penis enlarged further; testes larger, darker scrotal skin colour
Stage 5:
-adult type hair spread to medial surface thighs
-genitalia adult size and shape

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5
Q

Tanner stages girls

A

Stage 1:
-prepubertal: no pubic hair
-elevation of papilla only
Stage 2:
-sparse growth long straight or slightly curly minimally pigmented hair mainly on Labia
-breastbud noted/palpable ; enlargement of areola
stage 3:
-darker, coarser hair spreading over mons pubis
-further enlargement of breast and areola with no separation of contours
Stage 4:
-thick adult type hair not yet spread to medial surface thighs
-projection of areola and papilla to form secondary mound above level breast
Stage 5:
-hair adult type and distributed in classic inverse triangle
-adult contour breast with projection of papilla only

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6
Q

When does puberty start

A

Boys:
Testicular volume 4mls
97th centile: 10 years
3rd centile: 14 years
Adulthood: 20-25ml
Girls:
Breast stagen Tanner 2
97th centile: 9.2 years
3rd centile: 13.2 years

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7
Q

What is needed for puberty

A

Sex chromosomes XX/XY
Functioning hypothalamus
Functioning pituitary
End organ function (ovary/testes)
Responsiveness of tissues to hormone

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8
Q

Hormonal changes at puberty

A

Physical changes:
-controlled by gonadal sex steroids
-regulated by LH and FSH
Orchestration of puberty through GnRH pulse generator (hypothalamus) resulting in pulsatile LH and FSH secretion (pituitary) hypothalamo-pituitary-gonadal axis

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9
Q

Precocious puberty

A

Onset of secondary sexual characteristics before 8 years (girl), 9 years (boy)
Menarche before 9 years may lead to short stature
May be earlier in some ethnic groups eg African- Caribbean girls
May be concordant (follows normal sequence)- central gonadotrophin activation
Or discordant (eg pubic hair with small testes)- peripheral sex hormone production

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10
Q

Delayed puberty

A

Absence of secondary sexual characteristics by 13 years (girl), 14 years (boy)
Delayed puberty leads to reduced peak bone mass and osteoporosis

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11
Q

Central precocious puberty

A

Early activation of pulsatile GnRH regulator therefore early activation of gonadal sex hormone production and action
Incidence 1 in 5000 to 10000
Idiopathic CPP: up to 80% female, only 30% male

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12
Q

Peripheral precocious puberty

A

GnRH remains silent
Higher levels sex hormones
Derived from gonads or adrenal, or androgen secreting tumours

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13
Q

Adrenarche

A

Onset of adrenal androgen production due to development/maturation of the ZR
Takes several years until early adolescent where ZR is complete and this results in higher levels of adrenal androgen precursors
Clinical features:
-transient growth acceleration
-pubic/axillary hair
-oily skin, mild acne
-adult type body odor
Adrenarche does not equal pubarche
Onset of Adrenarche independent from regulation of central puberty

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14
Q

Idiopathic premature Adrenarche

A

Definition: increased adrenal androgen secretion (above sex and age specific reference range before 8 years in girls and 9 years in boys)
And clinical signs of androgen action: pubic/axillary hair, body odor, mild acne, oily skin
Exclude precocious puberty, enzyme defect, virilising tumours

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15
Q

GnRH (LHRH) test

A

The test: IV injection of 100mcg GnRH analogue with blood sampling for LH and FSH at baseline and 30’ and 60’ after
Central PP: stimulation pubertal range. Stimulated LH:FSH ratio>1
Peripheral PP: stimulation prepubertal range or suppression. Stimulated LH:FSH <1

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16
Q

Causes central precocious puberty GnRH dependent

A

Idiopathic precocious puberty
CNS tumours: optic glioma associated with NF1, hypothalamic astrocytoma
CNS disorders: developmental abnormalities, hypothalamic hamartoma, encephalitis, Brain abscess, hydrocephalus, myelomeningocele, arachnoid cyst, vascular lesion, cranial irradiation
Secondary central precocious puberty ie CAH
Psychosocial

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17
Q

Causes peripheral precocious puberty GnRH independent

A

Increased androgen secretion: congenial adrenal hyperplasia (21OHD, 11OHD), virilising neoplasm, leydig cell adenoma, familial male precocious puberty- testotoxicosis
Gonadotropin secreting tumours: chorioepitheliomas, germinoma, teratoma, hepatoma, choriocarcinoma
McCune-Albright syndrome
Ovarian cyst
Oestrogen secreting neoplasm
Hypothyroidism
Iatrogenic or exogenous sex hormones

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18
Q

Consequences of early puberty

A

Psychological problems may arise as a result of:
-pubertal levels of sex steroids resulting in adolescent behaviour
-altered self image
-child expected to behave at appropriate to height age
Growth:
-fixed amount of growth in puberty means that although the child may present with tall stature, growth will finish early and final height is restricted
Metabolic:
-increasing evidence that children with PP develop long term metabolic complications (glucose intolerance/ diabetes, cardiovascular etc)

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19
Q

Treatment gonadotrophin-dependent (central) PP

A

Long acting GNRH analogues
-ie decapeptyl :IM injection every 12-10 weeks
-cessation of FSH and LH secretion
No evidence of long term adverse affects
Only evidence of benefit for adult height if onset <6 years
Decision re who is treated is individual- ability to cope with physical and emotional changes of puberty
Usually discontinues when of pubertal age

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20
Q

Delayed puberty

A

Absence of secondary sexual characteristics by 13 girl 14 boy
First period after 15 years age
May also be pubertal failure “arrest” when puberty begins but fails to progress adequately

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21
Q

Forms gonadal failure

A

Primary failure: hypergonadotrophic, hypogonadism. Disinhibition negative feedback problem with sex steroid production
Secondary failure: disorder hypothalamus or pituitary, Low FSH and LH so low levels sex steroid HPG axis not activated. Hypogonadotrophic and hypogonadism

22
Q

Classification central hypo and hypo

A

Central (both sexes)
Intact HPG axis:
-constitutional delay of growth and puberty >50%
-chronic disease, poor nutrition, psychosocial deprivation, steroid therapy, hypothyroidism
Impaired HPG axis:
-tumours adjacent to HP axis (cranio, optic glioma, germinoma)
-congenital abnormalities (hypopituitarism, septo-optic dysplasia)
-irradiation and trauma
-GnRH/LH/FSH deficiency (including Kallmann, prader-willi, Laurence-moon-bardet-biedl syndrome)

23
Q

Classification peripheral primary gonadal failure

A

Male:
-bilateral testicular damage (cryptorchidism, torsion, haemochromatosis)
-syndromes associated with cryptorchidism (noonan, prader-willi, Laurence-moon-bardet-biedl syndrome)
Female:
-disorders of sex development (eg complete androgen insensitivity syndrome CAIS)
-toxic damage (thalasssaemia, galactoseamia)
Both sexes:
-gonadal dysgenesis (female;turner syndrome 45XO, male; Klinefelter syndrome 47XXY)
-irradiation/chemo

24
Q

Possible investigations

A

First line:
-FBC, UE, TFT, LFT, ESR, ferritin, coeliac screen
-karyotype (turners, klinefelters)
-basal LH, FSH, oestradiol/testosterone
-bone age
Second line:
-LHRH test
-male HCG stimulation test
-female pelvis USS
-female ovarian antibodies

25
Treatment of delayed puberty
Boys: testosterone: usually sustanon 50 (-250)mg IM monthly, slowly up titrated Girls: oestrogen: usually 17b-ethinyl-oestradiol transdermal patches (ie evorel 25) slowly up titrated starting with 1/4 patch 3 days on, 3 days off
26
Why is height important to review in childhood
Measurements of growth provide a sensitive indication of health in childhood
27
Important determinants of growth
Parental phenotype and genotype Quality and duration pregnancy Nutrition Specific system and organ intregrity Psycho-social environment Growth promoting hormones and factors
28
Normal phases of human growth
4 phases: -pre natal -infancy -childhood -adolescence
29
Prenatal growth
Most dramatic period of growth Most important factors affecting growth of fetus: maternal size and nutrition (placental function and maternal)
30
Key hormones in fetal growth
Insulin IGF-II IGF-I
31
Key influences on childhood growth
Emotional wellbeing Genetic factors Nutrition Chronic illness
32
Influences on GH secretion
GH stimulation: -exercise -stress -hypoglycaemia -fasting -high protein meals -perinatal development -puberty GH suppression: -hypothyroidism -hyperglycaemia -high carb meals -glucocorticoid excess -aging
33
Changes in proportions throughout growth
Newborns: larger head, smaller mandible, short neck, rounded chest, abdomen prominence, short limbs As we age: head finished ini first few years , proportional size of trunk is reduced, leg growth increases Adolescents more growth limbs relative to trunk Short trunk dysplasia, short limb dysplasia Short stature: rhizomelic, mesomelic, acromelic, asymmetry
34
Growth standards in uK
Normal range 2nd-98th centile
35
What do the centiles show
Optimum range of weights and heights Describes the % expected to be below Half children should be between 25-75 c
36
How to measure children under2
Measure length before 2 Length board or mat Without nappy or footwear
37
How to measure children over 2
Rigid rule with T piece or stadiometer Ensure heels, bottom, back, head, touching apparatus with eyes and ears 90 degrees Don’t try to stretch up measure on expiration Shoes removed
38
Auxology
Height; weight; BMI; height velocity; head circumference Plot all available previous heights Parental heights added to child’s growth chart and adjusted to child’s gender Mid parental height for a girl: (father height cm-13cm and mothers height cm)/2 Mid parental height for a boy: (mothers height +13cm +fathers height)/2 Final adult height ~8.5cm within mid parental height Does child look proportional
39
History
Birth History - Maternal disease & meds/alcohol/smoking ,Any abnormalities on scans , Gestation, Delivery, Birth Weight ?SGA (=<10th centile), SCBU Past Medical History -Hospital admissions, Chronic illness ,Systems Review for undiagnosed systemic illness (cardiac, GI, renal, respiratory), Recurrent ear infections, Thyroid symptoms, CNS symptoms Neonatal History -Feeding, Tone ,Hypoglycaemia , Prolonged Jaundice When did you start worrying? Height only or also weight? Red Book Pubertal History -Age of each stage Drug History -Steroids, even if just creams or inhalers Infancy -Weaning, Feeding, Reflux Intake -Detailed dietary history Family History -Country of origin, Consanguinity, Siblings’ growth & puberty, Parental heights & puberty, Anyone particularly short, Anyone with difficulty conceiving, Other endocrine and autoimmune disorders Development & Behaviour Social History -Type of school, School performance, ?Shortest in the class, Household, Social worker
40
Red book
The personal child health record also known as PCHR or red book is a national standard health and development record given to parents/carers at child’s birth
41
Examination
Dysmorphology- take time Neurocutaneous features Midline defects Goitres (hashimotos thyroditis); features of hypothyroidism Approximate pubertal assessment Visual fields Spine; skeletal deformities, rickets Signs of neglect or abuse
42
Consider
Birth weight- SGA? Height centile/HV Is the child crossing centiles >2 years Drugs Other illnesses (or symptoms) Additional features: dysmorphic features, proportions Short stature and female-. Consider TS
43
When to investigate
Measure height of child Height parents and determine mid parental cenitle Compare child’s height centile with mid parental Re measure child’s height after period of time Calculate present growth velocity Abnormally slow or rapid-> investigate further irrespective height Normal-> pathology unlikely
44
Investigations
Height -2.5 SDS or worse; and/or HV<25th centile (4cm/yr); + dysmorphic features and/or below target height and/or crossing in centiles No dysmorphic features FBC/U&Es/LFTs/Bone profile CRP/ESR Coeliac screen* (Total IgA) TFTs IGF-1 PRL REFER Relative short stature and dysmorphic features: FBC/U&Es/LFTs/Bo ne profile CRP/ESR Coeliac screen* (Total IgA) TFTs IGF-1 PRL Refer Short stature and female- karyotype If SGA without catch up growth by age 4 below target height refer Short stature with disproportions- refer +/- skeletal survey
45
Short stature
A length or height >2 SD below mean for age and gender
46
Idiopathic short stature
Constitutional delay of growth and puberty with normal height prediction ISS with delayed bone ageing and tempo of puberty ISS with normal bone ageing and tempo of puberty ISS with familial component ISS without familial component
47
Impact of illness
Short stature does not equal endocrine cause Any chronic disease can lead to short stature GI: coeliac, IBD Cardio: congential heart disease Renal disease Haematologic: chronic severe anaemia Pulmonary: cf, bronchopulmonary dysplasia Chronic inflammation and infection Drugs: -steroids -ADHD medication -radiotherapy for cancer
48
Constitutional delay of growth and puberty CDGP
One of the most common causes of short stature Diagnosis of exclusion More common in boys M:F 7:1 Poor growth becomes more evident from age 9-11 onwards when rest peers have pubertal growth spurt Delayed puberty (in boys >14 years) Delayed bone age low/normal height velocity Often CDGP in parents Final adult height normal or only slightly below target height If concerns about bullying, self esteem etc treat with testosterone
49
Tall stature
Height >2 SDs above population standard Above target height Primary, secondary( [precocious puberty, pituitary gigantism, hyperthyroidis), idiopathic Most tall children will be healthy
50
Things to consider especially in tall stature
Birthweight and length Neonatal history- hypoglycaemia, abdominal wall defects Developmental history FH: 1 parent >2 SDs, history of cardiac/eye abnormalities Thyroid status Physical findings: obesity, disproportion (arms span), head circumference, arachnodactyly, cryptorchidism, Growth chart- timing
51
Investigations tall stature
Endocrine Imaging Genetics
52
Overgrowth
With impaired final height: -precocious puberty -congenital adrenal hyperplasia -mccune Albright syndrome -hyperthyroidism With increased final height: -androgen or oestrogen deficiency -oestrogen resistance -pituitary gigantism GH excess -Klinefelter -Marfan syndrome -homocystinuria With Normal adult height: -beckwidth-weidemann syndrome -sotos syndrome

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